News tagged with mutant protein

CHARGE syndrome is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation ...

(Medical Xpress)—Rett Syndrome is a neurological disorder that affects about 1 in 10,000 girls. Back in 1992, University of Edinburgh researcher Adrian Bird discovered that the protein, MeCP2, plays a major ...

Pharmaceuticals that inhibit a specific enzyme may be useful in treating progeria, or accelerated aging in children. A new study performed at the Sahlgrenska Academy indicates that the development of progeria ...

A common cancer pathway causing tumor growth is now being targeted by a number of new cancer drugs and shows promising results. A team of researchers at Case Western Reserve University School of Medicine have developed a ...

(Medical Xpress)—An international team of bio-researchers has found that a mutant strain of the H5N1 influenza virus (created in a lab) has a 200-fold preference for binding with receptors in human cells, ...

The initial clinical trial of a novel approach to treating amyotrophic lateral sclerosis (ALS) – blocking production of a mutant protein that causes an inherited form of the progressive neurodegererative disease – may ...

New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone a ...

Joslin scientists have discovered a mechanism that regulates the production of brown fat, a type of fat which plays an important role in heat production and energy metabolism. The findings, which appear in the upcoming issue ...

Loyola University Chicago Stritch School of Medicine researchers have developed a genetically modified protein that dramatically reverses the skin disorder vitiligo in mice, and has similar effects on immune ...

(Medical Xpress)—As anyone familiar with the X-Men knows, mutants can be either very good or very bad—or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set ...

A previously invincible mutation in chronic myeloid leukemia (CML) has been thwarted by an investigational drug in a phase I clinical trial reported in the current edition of The New England Journal of Medicine.

By using a model, researchers at the University of Montreal have identified and "switched off" a chemical chain that causes neurodegenerative diseases such as Huntington's disease, amyotrophic lateral sclerosis and dementia. ...

Huntington's disease is an inherited, neurodegenerative disorder that usually appears in mid-adult life and leads to uncoordinated body movements and cognitive decline. The disease is due to multiple repetitions ...

A new discovery that sheds light on the genetic make up of ovarian cancer cells could explain why some women survive longer than others with this deadly disease. A multi-disciplinary team led by the Research Institute of ...